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NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) AND Autosomal recessive nonsyndromic hearing loss 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 2, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000412422.2

Allele description [Variation Report for NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)]

NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
HGVS:
  • NC_000011.10:g.77190710del
  • NC_000011.9:g.76901754del
  • NG_009086.2:g.67465del
  • NM_000260.4:c.3764delMANE SELECT
  • NM_001127180.2:c.3764del
  • NM_001369365.1:c.3731del
  • NP_000251.3:p.Lys1255fs
  • NP_001120652.1:p.Lys1255fs
  • NP_001356294.1:p.Lys1244fs
  • LRG_1420t1:c.3764del
  • LRG_1420:g.67465del
  • LRG_1420p1:p.Lys1255fs
  • NC_000011.9:g.76901754del
  • NC_000011.9:g.76901755del
  • NC_000011.9:g.76901755delA
  • NG_009086.1:g.67446del
  • NM_000260.3:c.3764del
  • NM_000260.3:c.3764delA
  • c.3764delA
  • p.Lys1255fs
Protein change:
K1244fs
Links:
dbSNP: rs111033347
NCBI 1000 Genomes Browser:
rs111033347
Molecular consequence:
  • NM_000260.4:c.3764del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127180.2:c.3764del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369365.1:c.3731del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 2
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 2; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
Identifiers:
MONDO: MONDO:0010807; MedGen: C1838701; Orphanet: 90636; OMIM: 600060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000487457Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Nov 2, 2016) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

Jaijo T, Aller E, Beneyto M, Najera C, Graziano C, Turchetti D, Seri M, Ayuso C, Baiget M, Moreno F, Morera C, Perez-Garrigues H, Millan JM.

J Med Genet. 2007 Mar;44(3):e71. No abstract available.

PubMed [citation]
PMID:
17361009
PMCID:
PMC2598023

Details of each submission

From Counsyl, SCV000487457.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025